List of conditions with craniosynostosis
Craniosynostosis, a condition in which the sutures of the head (joints between the bones of the skull) prematurely fuse and subsequently alter the shape of the head, is seen in multiple conditions, as listed below. The level of involvement varies by condition and can range from minor, single-suture craniosynostosis to major, multisutural craniosynostosis.
0-9
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
3MC syndrome | Spectrum of 4 syndromes: Carnevale, Mingarelli, Malpuech, and Michels. | [1][2] | |||
8q22.1 microdeletion syndrome | Microcephaly | [3] | |||
15q overgrowth syndrome | Macrocephaly; not seen in all cases. | [4] |
A
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Acrocephalopolydactyly | ![]() |
Oxycephaly | [5] | ||
Acrocephalosyndactyly type I | ![]() |
Coronal, sagittal | Acrobrachycephaly, brachycephaly, brachyturricephaly | Characterized by syndactyly of fingers and toes; usually known as Apert syndrome. | [6] |
Acrocephalosyndactyly type IV | Oxycephaly | Usually known as Goodman syndrome; now classified as Carpenter syndrome variant. | [7][8] | ||
Acrocephalopolysyndactyly type III | ![]() |
Usually known as Sakati-Nyhan-Tisdale syndrome. | [9] | ||
Acrocraniofacial dysostosis | ![]() |
Oxycephaly | [10] | ||
Adducted thumb | ![]() |
Microcephaly | [11] | ||
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome | ![]() |
Microcephaly | [12] | ||
Aneurysm-osteoarthritis syndrome | ![]() |
Usually classified as LDS type 1C. | [13] | ||
Antley-Bixler syndrome | ![]() |
Coronal | Brachycephaly, cloverleaf skull | Macrocephaly or microcephaly | [14][15] |
Aprosencephaly cerebellar dysgenesis | ![]() |
[16] | |||
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development (ACCIID) | Plagiocephaly, trigonocephaly | [17] | |||
Aurocephalosyndactyly | [18] | ||||
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ![]() |
Plagiocephaly | Microcephaly | [19] | |
Autosomal recessive osteopetrosis (TCIRG1) | ![]() |
Macrocephaly | [20] |
B
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Baller-Gerold syndrome | ![]() |
Sagittal, coronal | Brachyturricephaly | [21] | |
Beare-Stevenson cutis gyrata syndrome | ![]() |
Cloverleaf skull | [22] | ||
Bent bone dysplasia syndrome | Coronal | [23] | |||
Bonnemann-Meinecke-Reich syndrome | Described in 2 sets of siblings in 2 different families; last reported 1991. | [24] | |||
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia | Microcephaly | [25] |
C
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Cardiocranial syndrome, Pfeiffer type | Sagittal | [26] | |||
Carpenter syndrome | ![]() |
Coronal, sagittal | Brachycephaly, oxycephaly, trigonocephaly | Also classified as Acrocephalopolysyndactyly type II. | [27][28][29] |
CEBALID syndrome | Brachycephaly, dolichocephaly, plagiocephaly, platystencephaly, turricephaly | [30] | |||
Cerebrooculonasal syndrome | Brachycephaly | Macrocephaly | [31] | ||
Char syndrome | ![]() |
[32] | |||
Childhood hypophosphatasia | Dolichocephaly | [33] | |||
Chromosome 5p13 duplication syndrome | Brachycephaly, turricephaly | Macrocephaly | [34] | ||
Cloverleaf skull syndrome | ![]() |
Cloverleaf skull | Usually considered to be an isolated form. | [35] | |
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome | Cloverleaf skull | Last case reported in 1987. | [36] | ||
Cloverleaf skull-multiple congenital anomalies syndrome | Cloverleaf skull | Seen in 3 siblings from 1 family. | [37] | ||
Contractures, pterygia, and spondylocarpotarsal fusion syndrome | Microcephaly | [38] | |||
Cole-Carpenter syndrome | ![]() |
Coronal | Turricephaly | Macrocephaly | [39][40][41] |
Cranioectodermal dysplasia | ![]() |
Metopic, sagittal | Cloverleaf skull, dolichocephaly/scaphocephaly, plagiocephaly | Macrocephaly | [42][43][44][45][46] |
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development | Brachycephaly | Macrocephaly or microcephaly | [47] | ||
Craniofacial dyssynostosis | Lambdoid (bilateral), sagittal (posterior) | Brachycephaly, brachyturricephaly | [48] | ||
Craniofacial dysplasia - osteopenia syndrome | Brachycephaly | [49] | |||
Craniofrontonasal dysplasia-Poland anomaly syndrome | Less than 10 known cases described. | [50] | |||
Craniofrontonasal syndrome | ![]() |
Coronal | Brachycephaly | [51] | |
Craniorhiny | ![]() |
Oxycephaly/turricephaly | [52] | ||
Craniosynostosis, Boston type (MSX2) | Coronal | Brachycephaly, brachyturricephaly, trigonocephaly, turricephaly | Usually considered nonsyndromic. | [53] | |
Craniosynostosis (ALX4) | Susceptible cause; usually considered nonsyndromic. | [54] | |||
Craniosynstosis (ZIC1) | Brachycephaly, plagiocephaly, turricephaly | Can also feature delayed suture closure, microcephaly; usually considered nonsyndromic. | [55] | ||
Craniosynostosis (SMAD6) | Usually considered nonsyndromic. | [56] | |||
Craniosynostosis (TWIST1) | Coronal (right unicoronal), sagittal | Dolichocephaly/scaphocephaly, oxycephaly/turricephaly | Usually considered nonsyndromic. | [57] | |
Craniosynostosis (TCF12) | Coronal, sagittal | Usually considered nonsyndromic. | [58] | ||
Craniosynostosis (ERF) | Coronal, metopic,
pansynostosis, sagittal |
Macrocephaly; usually considered nonsyndromic. | [59] | ||
Craniosynostosis and dental anomalies | ![]() |
Coronal, metopic, sagittal | Brachycephaly, dolichocephaly/scaphocephaly, oxycephaly/turricephaly, trigonocephaly | [60] | |
Craniosynostosis with anomalies of the cranial base and digits | [61] | ||||
Craniosynostosis with ocular abnormalities and hallucal defects | [62] | ||||
Craniosynostosis, Adelaide type | [63] | ||||
Craniosynostosis, Philadelphia type | ![]() |
Sagittal | Dolichocephaly | Variable sagittal craniosynostosis penetrance. | [64] |
Craniosynostosis-anal anomalies-porokeratosis syndrome | ![]() |
Coronal, sagittal | Brachycephaly | [65] | |
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome | ![]() |
Sagittal | Dolichocephaly | [66] | |
Craniosynostosis-fibular aplasia syndrome | [67] | ||||
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | Sagittal | Scaphocephaly | [68] | ||
Craniosynostosis-intellectual disability syndrome of 51N and Gettig | [69] | ||||
Craniosynostosis-intellectual disability-clefting syndrome | Microcephaly | [70] | |||
Craniosynostosis-intracranial calcifications syndrome | Microcephaly | [71] | |||
Craniotelencephalic dysplasia | [72] | ||||
Crouzon syndrome | ![]() |
Coronal, sagittal | Brachycephaly | Also classified as Acrocephalosyndactyly type II. | [73][74] |
Crouzon syndrome-acanthosis nigricans syndrome | Brachycephaly | [75] | |||
Curry-Jones syndrome | Coronal (unilateral, sometimes bilateral) | [76] | |||
Cutis laxa, autosomal recessive, type 2E | ![]() |
[77] |
D
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
DEGCAGS syndrome | Plagiocephaly | Microcephaly | [78] | ||
Developmental delay with short stature, dysmorphic facial features, and sparse hair | Scaphocephaly, trigonocephaly | [79] | |||
Distal 10q deletion syndrome | Dolichocephaly | Microcephaly | [80] | ||
Distal monosomy 7p | [81] | ||||
Distal trisomy 1p36 | Metopic | Microcephaly | [82] | ||
Distal trisomy 5q | Microcephaly | [83] | |||
Distal symphalangism | [84] |
E
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Ehlers-Danlos syndrome, spondylodysplastic type | Macrocephaly | [85] |
F
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Familial scaphocephaly syndrome, McGillivray type | Dolichocephaly | [86] | |||
Fontaine progeroid syndrome | Coronal | Brachycephaly, turricephaly | Microcephaly | [87] | |
Frontometaphyseal dysplasia | Part of oto-palato-digital syndrome spectrum | [88] | |||
Frontonasal dysplasia with alopecia and genital anomaly | Brachycephaly, plagiocephaly (anterior) | Microcephaly | [89] |
G
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Glass-Chapman-Hockley syndrome | Coronal | Only seen in a single family. | [90] | ||
Gomez Lopez Hernandez syndrome | ![]() |
Brachycephaly, turricephaly | [91] | ||
Greig cephalopolysyndactyly syndrome | ![]() |
Metopic | Dolichocephaly/scaphocephaly, trigonocephaly | Delayed suture closure, macrocephaly | [92] |
H
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Hartsfield-Bixler-Demyer syndrome | Microcephaly | [93] | |||
Holoprosencephaly-craniosynostosis syndrome | Coronal | [94] | |||
Hunter-McAlpine craniosynostosis | [95] | ||||
Hyper-IgE recurrent infection syndrome | Scaphocephaly | [96][97] | |||
Hypogonadotropic hypogonadism (TCF12) | Coronal (bilateral) | Plagiocephaly (anterior) | [98] | ||
Hypomandibular faciocranial dysostosis | Coronal | [99] | |||
Hypophosphatemic rickets, autosomal recessive (DMP1) | [100] |
I
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
IMAGe syndrome | Macrocephaly | [101] | |||
Infantile hypophosphatasia | [102] | ||||
Intellectual developmental disorder with autistic features and language delay, with or without seizures | Microcephaly | [103] | |||
Intellectual disability, autosomal dominant (TLK2) | Microcephaly | [104] | |||
Intellectual disability, X-linked syndromic, Turner type (HUWE1) | Brachycephaly, trigonocephaly | Macrocephaly or microcephaly | [105] | ||
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome | Brachycephaly | [106] |
J
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Jackson-Weiss syndrome | ![]() |
[107] |
L
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Larsen-like syndrome, B3GAT3 type | Brachycephaly | [108] | |||
Lethal occipital encephalocele-skeletal dysplasia syndrome | Brachycephaly | [109] | |||
Loeys-Dietz syndrome | ![]() |
Dolichocephaly | [110][111][112][113][114] | ||
Lowry-MacLean syndrome | Microcephaly | [115] |
M
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Mandibular prognathia | [116] | ||||
Marshall-Smith syndrome | Dolichocephaly | [117] | |||
Meier-Gorlin syndrome | Sagittal | Microcephaly (progressive) | [118] | ||
Metaphyseal acroscyphodysplasia | [119] | ||||
Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome | Macrocephaly | [120] | |||
Microcephaly-micromelia syndrome | Microcephaly | [121] | |||
Monosomy 9q22.3 (microdeletion) | Metopic | Same characteristic features as Gorlin syndrome, including macrocephaly | [122] | ||
Mosaic variegated aneuploidy syndrome | Dolichocephaly | Microcephaly | [123] | ||
Mucolipidosis type II | Trigonocephaly | [124] | |||
Muenke syndrome | ![]() |
Coronal | Brachycephaly, plagiocephaly | Macrocephaly | [125] |
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | Metopic | Macrocephaly or microcephaly | [126] |
N
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (NEDMISB) | Microcephaly | [127] | |||
Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) | Macrocephaly | [128] | |||
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation | ![]() |
Dolichocephaly | [129] | ||
Noonan syndrome-like disorder with loose anagen hair (PPP1CB) | Macrocephaly (relative) | [130] |
O
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome | Described in 2 brothers, one of whom died within a month of birth. | [131] | |||
Osteoglophonic dysplasia | Cloverleaf skull | Mild cloverleaf skull presentation closer to a more tower-shaped skull. | [132] | ||
Osteosclerosis, Stanescu type | Brachycephaly | Microcephaly | [133] | ||
Osteosclerosis-developmental delay-craniosynostosis syndrome | Brachycephaly | Macrocephaly; described in 13 patients from a four-generation family. | [134] |
P
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Parenti-Mignot neurodevelopmental syndrome | [135] | ||||
Peters plus syndrome | ![]() |
Macrocephaly or microcephaly | [136] | ||
Pfeiffer syndrome | ![]() |
Coronal | Brachyturricephaly, cloverleaf skull | Also classified as Acrocephalosyndactyly type V. | [137] |
Potocki-Shaffer syndrome | Brachycephaly, turricephaly | [138] | |||
Progeroid and marfanoid aspect-lipodystrophy syndrome | Scaphocephaly | Macrocephaly | [139] | ||
Pseudo-Hurler polydystrophy | ![]() |
[140] |
R
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Rahman syndrome | Macrocephaly | [141] | |||
Rienhoff syndrome | ![]() |
Brachycephaly, dolichocephaly | Usually classified as LDS type 5. | [142] | |
Roberts-SC phocomelia syndrome | ![]() |
Brachycephaly | Microcephaly | [143] | |
Robinow-Sorauf syndrome | Pansynostosis | Plagiocephaly | Now classified as a variant of SCS. | [144] |
S
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Saethre-Chotzen syndrome | ![]() |
Coronal | Brachycephaly, oxycephaly, plagiocephaly | Delayed suture closure; also classified as Acrocephalosyndactyly type III. | [145] |
Saldino-Mainzer syndrome | Scaphocephaly, trigonocephaly | Microcephaly | [146] | ||
Shprintzen-Goldberg syndrome | ![]() |
Dolichocephaly, brachyturricephaly | Microcephaly | [147] | |
SLC39A8-CDG | [148] | ||||
Spondyloepiphyseal dysplasia, Nishimura type | [149] | ||||
Structural brain anomalies with impaired intellectual development and craniosynostosis | Coronal | Brachycephaly | Microcephaly | [150] | |
Summitt syndrome | Oxycephaly | Last reported 1979; now classified as Carpenter syndrome variant. | [151][152][153] | ||
Syndactyly type 1 (2q35 duplication) | Sagittal | [154] | |||
Syndactyly-telecanthus-anogenital and renal malformations syndrome | [155] |
T
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Thanatophoric dysplasia | ![]() |
Cloverleaf skull | Macrocephaly | [156][157][158] | |
Tolchin-Le Caignec syndrome | Scaphocephaly, oxycephaly | Large head circumference | [159] | ||
Trigonocephaly (FGFR1) | Metopic | Trigonocephaly | Microcephaly; usually considered nonsyndromic. | [160] | |
Trigonocephaly (FREM1) | Metopic | Trigonocephaly | Microcephaly; usually considered nonsyndromic. | [161] | |
Trigonocephaly-broad thumbs syndrome | Trigonocephaly | Described in a mother and son. | [162] |
V
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
Van den Ende-Gupta syndrome | Scaphocephaly | [163] |
Z
Condition | Image | Impacted sutures | Cranial shape | Notes | Sources |
---|---|---|---|---|---|
ZTTK syndrome | Macrocephaly (can be relative) | [164] |
References
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- "Craniosynostosis, Adelaide type (Concept Id: C1833578)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Craniosynostosis, Philadelphia type (Concept Id: C1832590)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Craniosynostosis-anal anomalies-porokeratosis syndrome (Concept Id: C1864186)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome (Concept Id: C1838347)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Craniosynostosis-fibular aplasia syndrome (Concept Id: C1857492)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome (Concept Id: C3267187)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Craniosynostosis-intellectual disability syndrome of 51N and Gettig (Concept Id: C1857473) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Craniosynostosis-intellectual disability-clefting syndrome (Concept Id: C1857472)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Craniosynostosis-intracranial calcifications syndrome (Concept Id: C1842058)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Craniotelencephalic dysplasia (Concept Id: C1857471)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Crouzon syndrome (Concept Id: C0010273)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Acrocephalosyndactyly Type II: Crouzon Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved 2023-07-06
- "Crouzon syndrome-acanthosis nigricans syndrome (Concept Id: C2677099)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Curry-Jones syndrome (Concept Id: C0795915)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Cutis laxa, autosomal recessive, type 2E (Concept Id: C5561944) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "DEGCAGS syndrome (Concept Id: C5561967)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Developmental delay with short stature, dysmorphic facial features, and sparse hair (Concept Id: C4310801)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Distal 10q deletion syndrome (Concept Id: C2674937) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Distal monosomy 7p (Concept Id: C5190515)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Distal trisomy 1p36 (Concept Id: C4707665)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Distal trisomy 5q (Concept Id: C4706363)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Distal symphalangism (Concept Id: C1861401)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Ehlers-Danlos syndrome, spondylodysplastic type, 1 (Concept Id: C4552003)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Familial scaphocephaly syndrome, McGillivray type (Concept Id: C1865070)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Fontaine progeroid syndrome (Concept Id: C2676780)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Frontometaphyseal dysplasia 1 (Concept Id: C4281559)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Frontonasal dysplasia with alopecia and genital anomaly (Concept Id: C3150703) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Glass-chapman-hockley syndrome (Concept Id: CN268574)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Gomez Lopez Hernandez syndrome (Concept Id: C0795959)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Greig cephalopolysyndactyly syndrome (Concept Id: C0265306)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Hartsfield-Bixler-Demyer syndrome (Concept Id: C1845146)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Holoprosencephaly-craniosynostosis syndrome (Concept Id: C1832424)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Hunter-McAlpine craniosynostosis (Concept Id: C1832408) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Hyper-IgE recurrent infection syndrome 1, autosomal dominant (Concept Id: C4721531)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Hyper-IgE recurrent infection syndrome 4, autosomal recessive (Concept Id: C5193141)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Hypogonadotropic hypogonadism 26 with or without anosmia (Concept Id: C5676903)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Hypomandibular faciocranial dysostosis (Concept Id: C1855848)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Hypophosphatemic rickets, autosomal recessive, 1 (Concept Id: C4551495)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "IMAGe syndrome (Concept Id: C1846009)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Infantile hypophosphatasia (Concept Id: C0268412)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Intellectual developmental disorder with autistic features and language delay, with or without seizures (Concept Id: C5394447)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Intellectual disability, autosomal dominant 57 (Concept Id: C4748003)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Intellectual disability, X-linked syndromic, Turner type (Concept Id: C2678046)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome (Concept Id: C4751073)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Jackson-Weiss syndrome (Concept Id: C0795998)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Larsen-like syndrome, B3GAT3 type (Concept Id: C3278404)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Lethal occipital encephalocele-skeletal dysplasia syndrome (Concept Id: C3280729)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Loeys-Dietz syndrome (Concept Id: C2697932)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Loeys-Dietz syndrome 1 (Concept Id: C4551955)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Loeys-Dietz syndrome 2 (Concept Id: C2674574)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Loeys-Dietz syndrome 4 (Concept Id: C3553762)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Loeys-Dietz syndrome 6 (Concept Id: C5562041)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Lowry-MacLean syndrome (Concept Id: C0796020) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02.
- "Mandibular prognathia (Concept Id: C0399526)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Marshall-Smith syndrome (Concept Id: C0265211)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Meier-Gorlin syndrome 7 (Concept Id: C4310738)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Metaphyseal acroscyphodysplasia (Concept Id: C1855243)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (Concept Id: C1855188)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Microcephaly-micromelia syndrome (Concept Id: C1855079)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Monosomy 9q22.3 (Concept Id: C3711390)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Mosaic variegated aneuploidy syndrome 2 (Concept Id: C3279843)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Mucolipidosis type II (Concept Id: C2673377)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Muenke syndrome (Concept Id: C1864436)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Multiple congenital anomalies-neurodevelopmental syndrome, X-linked (Concept Id: C5542341)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (Concept Id: C5436747)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Neurodevelopmental disorder with speech impairment and dysmorphic facies (Concept Id: C5436699)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation (Concept Id: C4225274) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Noonan syndrome-like disorder with loose anagen hair 2 (Concept Id: C4479577)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome (Concept Id: C4302879)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Osteoglophonic dysplasia (Concept Id: C0432283)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Osteosclerosis - Stanescu type (Concept Id: C0432263) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Osteosclerosis-developmental delay-craniosynostosis syndrome (Concept Id: C4302818)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Parenti-mignot neurodevelopmental syndrome (Concept Id: C5676984)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Peters plus syndrome (Concept Id: C0796012)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Pfeiffer syndrome (Concept Id: C0220658)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Potocki-Shaffer syndrome (Concept Id: C1832588)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Progeroid and marfanoid aspect-lipodystrophy syndrome (Concept Id: C4310796)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Pseudo-Hurler polydystrophy (Concept Id: C0033788)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Rahman syndrome (Concept Id: C4479637)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Rienhoff syndrome (Concept Id: C3810012)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Roberts-SC phocomelia syndrome (Concept Id: C0392475)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Robinow-Sorauf syndrome (Concept Id: C1867146)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Saethre-Chotzen syndrome (Concept Id: C0175699)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Saldino-Mainzer syndrome (Concept Id: C1849437)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Shprintzen-Goldberg syndrome (Concept Id: C1321551)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "SLC39A8-CDG (Concept Id: C4225234)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Spondyloepiphyseal dysplasia, nishimura type (Concept Id: C4305147)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Structural brain anomalies with impaired intellectual development and craniosynostosis (Concept Id: C5231485)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Summitt syndrome (Concept Id: C1802405)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- Cohen, D. M.; Green, J. G.; Miller, J.; Gorlin, R. J.; Reed, J. A. (October 1987). "Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes". American Journal of Medical Genetics. 28 (2): 311–324. doi:10.1002/ajmg.1320280208. ISSN 0148-7299. PMID 3322002.
- "SUMMITT SYNDROME". omim.org. Retrieved 2023-07-06.
- "Syndactyly type 1 (Concept Id: C1861380)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Syndactyly-telecanthus-anogenital and renal malformations syndrome (Concept Id: C2678045)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Thanatophoric dysplasia (Concept Id: C0039743)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Thanatophoric dysplasia type 1 (Concept Id: C1868678)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Thanatophoric dysplasia, type 2 (Concept Id: C1300257)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Tolchin-Le Caignec syndrome (Concept Id: C5436509) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Trigonocephaly 1 (Concept Id: C0432122)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-03.
- "Trigonocephaly 2 (Concept Id: C3280974)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "Trigonocephaly-broad thumbs syndrome (Concept Id: CN204378)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06.
- "Van den Ende-Gupta syndrome (Concept Id: C1833136)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
- "ZTTK syndrome (Concept Id: C4310696)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-05.
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